Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
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DOI: 10.1136/openhrt-2023-002251
Abstract: Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD). Methods and results In a woman in her 60s with… read more here.
Keywords: t410a gla; lyso gb3; mutation; late onset ... See more keywords